Cytogenetics - Chapter 4

• Monogenic - refers to the type of mutation or disarrangement of one gene.
• Modes of inheritance - the patterns in which single-gene traits and disorders occur in families.
• Autosomal dominant - trait that affects both sexes and can be seen in all generations.
• Huntington's disease - an autosomal dominant disorder characterized by uncontrollable movements and changes in behavior and thinking, following with death 10-20 years later.
• Autosomal recessive - trait that affects both sexes but is not visible to the next; may appear “skipping” generations.
• Cystic Fibrosis - an autosomal recessive disorder characterized by overproduction of mucus, sweat, and digestive juices that builds up in airways, digestive tracts, and mouth, preventing normal mechanisms of life such as eating, swallowing, and worst, breathing.
• Gregor Mendel - is an Austrian monk dubbed in history as the “Father of Classical Genetics”.
• "elementen" - , a unit of inheritance that passes traits from one generation to another.
• P1 - referred to as Parental Generation
• F1 - referred to as First Filial Generation
• F2 - referred to as Second Filial Generation
• True breeding - offsprings with the same trait as their parents.
• Hybridization - a method of combining traits from one true bred offspring to another.
• Hybrids - product of hybridization in which offsprings inherit different gene variants from each parent.
• Dominant - trait observed in a particular offspring.
• Recessive - trait that was masked off a generation.
• Monohybrid cross - method of hybridization that observes only one specific trait using hybrid parents.
• Law of segregation - the idea that genes come separately from a pair of gametes from each parent. During meiosis, the four haploid daughter cells were the mere product in which they carry different “elementen” that they inherit from their parents.
• William Bateson - renamed Mendel’s “elementen” into “gene”, a term that means “to give birth to”.
• Homozygous - "true breeding offspring", carries completely the same alleles.
• Heterozygous - "non-true breeding/hybrids" carries two different alleles.
• Genotype - the combination of the organism’s alleles.
• Phenotype - the physical expression of organism’s alleles.
• Wild type phenotype - most common expression of a particular allele in a population.
• Mutant phenotype - variant of a gene’s expression that arises when gene undergoes mutation.
• Punnett Square - represents how genes in gametes join if they are on different chromosomes.
• Test cross - combinations produced through a Punnett Square.
• OCA2 - confers eye color by controlling melanin synthesis with HERC2 controls its expression.
• HERC2 - controls the expression of the OCA2 gene.
• Probability - the likelihood that an event will occur.
• Product rule - states that probability of simultaneous independent events equals the product of their independent probabilities.
• Pedigree - symbolic representations of family relationships and the transmission of inherited traits.
• Albinism - deficiency in melanin production.
• Polydactyly - extra fingers and/or toes; an autosomal dominant trait that does not skip generation and can affect both sexes.
• Normal female, male

  
• Female, male who expresses trait.

  
• Carrier

  
• Dead female, male

  
• sex unspecified

  
• Stillbirth